Administration of recombinant erythropoietin alone does not improve the phenotype in iron refractory iron deficiency anemia patients

Mutations in transmembrane protease, serine 6 ( TMPRSS6 ) cause iron refractory iron deficiency anemia (IRIDA). Parenteral iron administration may slightly improve hemoglobin level but is troublesome for patients. Optimal treatment has yet to be determined. We identified five patients from four inde...

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Bibliographic Details
Published in:Annals of hematology 2013-03, Vol.92 (3), p.387-394
Main Authors: Lehmberg, Kai, Grosse, Regine, Muckenthaler, Martina U., Altamura, Sandro, Nielsen, Peter, Schmid, Hansjörg, Graubner, Ulrike, Oyen, Florian, Zeller, Wolfgang, Schneppenheim, Reinhard, Janka, Gritta E.
Format: Article
Language:English
Subjects:
Adolescent
Anemia, Iron-Deficiency - blood
Anemia, Iron-Deficiency - drug therapy
Anemia, Iron-Deficiency - genetics
Child
Erythropoietin - administration & dosage
Erythropoietin - blood
Female
Hematology
Humans
Male
Medicine
Medicine & Public Health
Membrane Proteins - genetics
Oncology
Original Article
Phenotype
Recombinant Proteins - administration & dosage
Recombinant Proteins - blood
Serine Endopeptidases - genetics
Young Adult
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Summary:Mutations in transmembrane protease, serine 6 ( TMPRSS6 ) cause iron refractory iron deficiency anemia (IRIDA). Parenteral iron administration may slightly improve hemoglobin level but is troublesome for patients. Optimal treatment has yet to be determined. We identified five patients from four independent families displaying the IRIDA picture with truncating biallelic mutations in TMPRSS6 , one of which is novel. Liver iron determined by superconducting quantum interference device biosusceptometry ranged from 390 to 720 µg Fe/g wet weight (normal range 100–500; n = 3). Intestinal iron absorption (12 and 32 %, normal range 10–50; n = 2) and 59Fe erythrocyte incorporation after ingestion of 59Fe (57 and 38 %, normal range 70–90; n = 2) were inadequately low for iron-deficient anemic individuals. Baseline serum erythropoietin was elevated or borderline high in four patients. Administration of recombinant human erythropoietin (rhEPO) at up to 273 and 188 U/kg body weight/week alone did not improve anemia or result in a decrease of urinary hepcidin in two individuals. In conclusion, the ability of exogenous rhEPO to increase hemoglobin level appears to be impaired in IRIDA.
ISSN:0939-5555
1432-0584
DOI:10.1007/s00277-012-1618-8